Canonical Allele Identifier: PA2825066941
Gene: GALC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Glu274Asp
CA390747997
NM_000153.4:c.822A>T
CA390748000
NM_000153.4:c.822A>C